Emerinopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to muscular dystrophy and rigid spine muscular dystrophy 1. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prophase. Related phenotype is muscle.

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Related Diseases for Emerinopathy

Diseases related to Emerinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy	28.2	EMD LMNA SUN2
2	rigid spine muscular dystrophy 1	9.9
3	reynolds syndrome	9.7	LMNA SUN2
4	cardiomyopathy, dilated, 1h	9.6	EMD LMNA
5	emery-dreifuss muscular dystrophy 2, autosomal dominant	9.6	EMD LMNA
6	myopathy, proximal, and ophthalmoplegia	9.6	EMD LMNA
7	muscular dystrophy, limb-girdle, type 1b	9.6	EMD LMNA
8	pelger-huet anomaly	9.5	EMD LMNA
9	autosomal dominant limb-girdle muscular dystrophy	9.5	EMD LMNA
10	cardiomyopathy, dilated, 1a	9.5	EMD LMNA
11	familial partial lipodystrophy	9.4	EMD LMNA
12	muscular dystrophy, congenital, lmna-related	9.4	EMD LMNA
13	muscle tissue disease	9.3	EMD LMNA
14	congenital fiber-type disproportion	9.2	EMD LMNA
15	atrial standstill 1	9.1	EMD LMNA
16	emery-dreifuss muscular dystrophy	9.0	EMD LMNA SUN2
17	arrhythmogenic right ventricular cardiomyopathy	8.9	EMD LMNA
18	dilated cardiomyopathy	8.7	EMD LMNA SUN2

Graphical network of the top 20 diseases related to Emerinopathy:

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Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.8	EMD LMNA SUN2

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Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Obeservatory for PAtients With Laminopathies and Emerinopathies)	Recruiting	NCT03058185

Search NIH Clinical Center for Emerinopathy

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Genetic Tests for Emerinopathy

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Anatomical Context for Emerinopathy

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Publications for Emerinopathy

Articles related to Emerinopathy:

#	Title	Authors	Year
1	Muscle MRI in female carriers of emerinopathy. ( 24118169 )	Carboni N....Marrosu M.G.	2013
2	Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. ( 18646565 )	Astejada M.N....Hayashi Y.K.	2007
3	Presence of emerinopathy in cases of rigid spine syndrome. ( 9829281 )	Kubo S....Arahata K.	1998

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Genes for Emerinopathy

Genes related to Emerinopathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EMD	Emerin	Protein Coding	17.23	GeneCards inferred via : Publications (show sections)
2	LMNA	Lamin A/C	Protein Coding	16.88	GeneCards inferred via : Publications (show sections)
3	SUN2	Sad1 And UNC84 Domain Containing 2	Protein Coding	16.88	GeneCards inferred via : Publications (show sections)

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Variations for Emerinopathy

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Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

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Pathways for Emerinopathy

Pathways related to Emerinopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	12.49	EMD LMNA SUN2
2	Mitotic Prophase ⁶⁶ Show member pathways Gene Silencing by RNA ⁶⁶ Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁶ MASTL Facilitates Mitotic Progression ⁶⁶ Small interfering RNA (siRNA) biogenesis ⁶⁶ Transcriptional regulation by small RNAs ⁶⁶	12.03	EMD LMNA
3	Cytoskeletal Signaling ⁴	11.86	EMD LMNA
4	Meiosis ⁶⁶ Show member pathways Meiotic recombination ⁶⁶ Meiotic synapsis ⁶⁶	11.79	LMNA SUN2
5	Arrhythmogenic right ventricular cardiomyopathy (ARVC) ³⁷ Show member pathways Arrhythmogenic Right Ventricular Cardiomyopathy ¹ Calpain Protease Regulates Cellular Mechanics ⁶⁴	11.66	EMD LMNA
6	Dilated cardiomyopathy (DCM) ³⁷ Show member pathways Hypertrophic cardiomyopathy (HCM) ³⁷	11.19	EMD LMNA
7	Initiation of Nuclear Envelope Reformation ⁶⁶ Show member pathways Clearance of Nuclear Envelope Membranes from Chromatin ⁶⁶ Nuclear Envelope Reassembly ⁶⁶	10.14	EMD LMNA

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GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear inner membrane	GO:0005637	9.16	EMD SUN2
2	nuclear membrane	GO:0031965	9.13	EMD LMNA SUN2
3	nuclear envelope	GO:0005635	8.8	EMD LMNA SUN2

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitotic nuclear envelope disassembly	GO:0007077	9.16	EMD LMNA
2	nuclear envelope organization	GO:0006998	8.96	LMNA SUN2
3	mitotic nuclear envelope reassembly	GO:0007084	8.62	EMD LMNA

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Sources for Emerinopathy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia